ClinVar Miner

Submissions for variant NM_000465.4(BARD1):c.853C>G (p.Gln285Glu)

dbSNP: rs746470339
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000223005 SCV000276692 uncertain significance Hereditary cancer-predisposing syndrome 2018-06-18 criteria provided, single submitter clinical testing The p.Q285E variant (also known as c.853C>G), located in coding exon 4 of the BARD1 gene, results from a C to G substitution at nucleotide position 853. The glutamine at codon 285 is replaced by glutamic acid, an amino acid with highly similar properties. This amino acid position is not well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV000698410 SCV000827071 uncertain significance Familial cancer of breast 2023-12-23 criteria provided, single submitter clinical testing This sequence change replaces glutamine, which is neutral and polar, with glutamic acid, which is acidic and polar, at codon 285 of the BARD1 protein (p.Gln285Glu). This variant is present in population databases (rs746470339, gnomAD 0.0009%). This variant has not been reported in the literature in individuals affected with BARD1-related conditions. ClinVar contains an entry for this variant (Variation ID: 232534). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be tolerated. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Color Diagnostics, LLC DBA Color Health RCV000223005 SCV000908581 uncertain significance Hereditary cancer-predisposing syndrome 2023-09-05 criteria provided, single submitter clinical testing This missense variant replaces glutamine with glutamic acid at codon 285 of the BARD1 protein. Computational prediction suggests that this variant may not impact protein structure and function (internally defined REVEL score threshold <= 0.5, PMID: 27666373). To our knowledge, functional studies have not been reported for this variant. This variant has not been reported in individuals affected with BARD1-related disorders in the literature, but it has been reported in an unaffected individual (PMID: 33471991; Leiden Open Variation Database DB-ID BARD1_000354). This variant has been identified in 1/248974 chromosomes in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.
Sema4, Sema4 RCV000223005 SCV002529658 uncertain significance Hereditary cancer-predisposing syndrome 2021-11-08 criteria provided, single submitter curation
Baylor Genetics RCV000698410 SCV005054603 uncertain significance Familial cancer of breast 2024-02-09 criteria provided, single submitter clinical testing

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